Pediatric Minimally Invasive Surgery * Conclusions o Surgeon must decide whether a minimally invasive approach is the safest and most appropriate procedure. o Must convert to an open procedure at any time that the risks are greater than those of the open technique. o Must increase his/her repertoire of MIS cases as skills improve. o Must stay informed about new techniques, tools, and indications and complete CME in order to gain needed training.

Final Thoughts “Five years ago it would have been unthinkable that an [entire] issue of Seminars in Pediatric Surgery would be discussing intracorporeal anastomoses after intestinal resections and laparoscopic pull-through for high imperforate anus. Yes it is likely that we are only in the infancy of the development of laparoscopic surgery in our patients…Several pediatric surgeons are involved with experimentation and development with robotic surgery…Certainly, it will make intestinal anastomoses easier and make [more complicated] procedures such as portoenterostomy [Kasai procedure] more feasible.”

Biotinidase Deficiency - BIOT is an enzyme deficiency that occurs in about 1 in 60,000 U.S. newborns and can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves daily doses of biotin.

Congenital Adrenal Hyperplasia – 21-Hydroxylase Deficiency - CAH is caused by decreased or absent production of certain adrenal hormones. The most prevalent type is detected by newborn screening in about 1 in 9,000 Texas newborns. Early detection can prevent death in boys and girls and sex misassignment in girls. Treatment involves lifelong hormone replacement therapy.

Congenital Hypothyroidism Inadequate or absent production of thyroid hormone results in CH and is present in about 1 in 2,000 Texas newborns. Thyroid hormone replacement therapy begun by 1 month of age can prevent mental and growth retardation.

Galactosemia – Galactose-1-Phosphate Uridyltransferase (GALT) Deficiency - Failure to metabolize the milk sugar galactose results in GAL and occurs in about 1 in 50,000 U.S. newborns. The classical form detected by newborn screening can lead to cataracts, liver cirrhosis, mental retardation and/or death. Treatment is elimination of galactose from the diet usually by substituting soy for milk products.Homocystinuria - HCY is caused by an enzyme deficiency that blocks the metabolism of an amino acid that can lead to mental retardation, osteoporosis and other problems if left undetected and untreated. The incidence is approximately 1 in 350,000 U.S. newborns. Treatment may involve a restricted protein diet and supplemental medicines, including Vitamin B6.

Maple Syrup Urine Disease (MSUD) - MSUD is a defect in the way that the body metabolizes certain amino acids and is present in about 1 in 200,000 U.S. newborns. Early detection and treatment with a restricted protein diet can prevent death and severe mental retardation. There is an increased risk in Mennonites.

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency - The most common disorder in the way the body metabolizes fatty acids is called MCAD deficiency. Undetected, it can cause sudden death. Treatment is simple and includes ensuring frequent food intake. The incidence from newborn screening is not yet known, but is thought to be approximately 1 in 15,000 U.S. newborns.

Phenylketonuria (PKU) - An enzyme defect that prevents metabolism of phenylalanine, an amino acid essential to brain development, is known as PKU and occurs in approximately 1 in every 23,000 Texas newborns. Undetected and untreated with a special restricted protein diet, PKU leads to irreversible mental retardation.

Sickle Cell Disease (SCD) – includes Sickle Cell Anemia (Hb SS), Sickle Beta Thalassemia (Hb S/?Th) and Sickle-Hemoglobin C Disease (Hb S/C) - Sickle cell anemia is the most prevalent SCD and causes clogged blood vessels resulting in severe pain and other severe health problems. Newborn screening detects about 1 in 2,500 Texas newborns with SCD annually. Persons of African or Mediterranean descent are at an increased risk. Early treatment with daily penicillin prevents death in the first few years of life.

Tyrosinemia Type I -TYR is caused by a deficiency in the liver of one enzyme that breaks down tyrosine. If not treated, the condition causes severe liver disease and other health problems. Treatment consists of medication including vitamin D and nitisinone, and a special restricted protein diet. Estimated incidence is 1 case in every 100,000 live births.

Fatty Acid Oxidation (FAO) Disorders include Carnitine Uptake Defect (CUD), Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), Trifunctional Protein Deficiency (TFP) and Very-Long-Chain Acyl-Co A Dehydrogenase Deficiency (VLCAD) - Disorders besides MCAD deficiency, other FAO disorders may be detected through newborn screening. They are usually described in categories based on the length of the fatty acid involved. Undetected and untreated they can cause seizures, coma, and even death. Treatment may include a low fat diet, frequent food intake, supplementation with L-Carnitine (Carnitor) and medium chain triglycerides.

Urea Cycle Disorders (UCD) include Argininosuccinic Acidemia (ASA) and Citrullinemia (CIT) - A UCD is a genetic disorder caused by a deficiency of one of the enzymes responsible for removing ammonia from the blood stream. Some UCDs may be detected as a part of newborn screening. They are characterized by seizures, poor muscle tone, respiratory distress, and coma, and result in death if left undetected and untreated. Treatment is by a special restricted protein diet and medications including phenylbutyrate to remove ammonia.

Newborn Screening Expansion * Newborn screening began in South Carolina in the mid-1960’s with testing for phenylketonuria (PKU) * Over the years, the test panel has expanded as improvements in technology occurred and as research indicated benefit of pre-symptomatic detection for specific disorders

Newborn Screening-Why Expand the Test Panel * Several factors have lead to the current expansion o Technological advances: increased use of tandem mass spectrometry (MS/MS) in newborn screening applications and improvement in the screening protocol for cystic fibrosis o NO ADDITIONAL BLOOD NEEDED! o Improved morbidity/mortality: research supports improved outcomes for pre-symptomatic identification of cystic fibrosis as well as disorders found through MS/MS; research has long recognized benefit of screening for biotinidase deficiency o Cost benefit: research supports pre-symptomatic identification of fatty acid, amino acid and organic acid disorders found through MS/MS * SC health care providers support expanded screening o Survey of all newborn health care providers in SC conducted in 11/00: top three conditions recommended for expansion include cystic fibrosis, LCHADD ( a fatty acid oxidation disorder) and biotinidase deficiency o Newborn Screening Advisory Committee recommended step-wise expansion to include cystic fibrosis, biotinidase deficiency and disorders found through MS/MS * Growing awareness in disparity across states in conditions included in newborn screening test panel * Expansion would provide SC infants with one of the most comprehensive test panels in US * Consumer groups such as the March of Dimes support expanded test panels

Newborn Screening Expansion * Current test panel includes screening for PKU, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia (CAH), medium chain acyl co-A dehydrogenase deficiency (MCADD) and hemoglobinopathiesNewborn Screening Expansion-Cystic Fibrosis * Cystic fibrosis is a genetic disorder that is found in 1:3500 Caucasian and 1:17,000 African American births * CF is a recessive genetic disorder. Risk of recurrence is 1:4 with each pregnancy. * In CF, the pulmonary and gastrointestinal systems are severely compromised. * Fluids that are normally thin and slippery become thick and sticky * Infections are treated aggressively * Chest physiotherapy used to clear lungs * Pancreatic enzymes used to aid digestion * Screening will include measurement of immunoreactive trypsinogen (IRT) * If the IRT is above a set level, a repeat IRT will be requested. * If the IRT is still above normal limits on the second specimen, the infant will be referred to a CF center for sweat testing * Sweat testing is still the “gold standard” for confirmation * DNA testing for the most common CF mutations may be added to the screening protocol in the future

Newborn Screening Expansion-Biotinidase Deficiency * Biotinidase deficiency is a recessive genetic disorder with a prevalence of 1:60,000 births (ethnic difference in prevalence not established) * Like CF, risk of recurrence is 1:4 with each pregnancy * Affected infants cannot utilize biotin, a vitamin found in foods, including breastmilk and infant formula * Leads to developmental delay, seizures, hair loss, hearing loss, skin disorders and immunodeficiency * Treated by giving infant biotin in the form of a crushed pill or capsule mixed into milk or food * Screening will involve direct measurement of biotinidase * False positive rates should be low

Newborn Screening Expansion-Fatty Acid, Amino Acid and Organic Acid Disorders * Fatty acid, amino acid and organic acid disorders are individually rare, but occur with a combined frequency of 1:5000 to 1:6000 births * Screening will include measurement of an acyl carnitine profile and an amino acid profile * MS/MS is very precise, but interpretation is complex * REMINDER--MS/MS can identify many, but not all metabolic disorders

Objectives • Demonstrate a deeper understanding of newborn screening (NBS); • Be aware of available tools to react appropriately to abnormal results. * What is Newborn Screening? * Impact on Medical Practice * What’s next in newborn screening?

Outline What is Biochemical Genetics? To achieve early detection and prevention of disease, Biochemical Genetics has a strong emphasis on screening based upon the analysis and interpretation of metabolic profiles in body fluids and tissues:

Newborn Screening * aimed at identification of conditions for which early intervention can prevent - mortality - morbidity - disabilities * performed by analysis of diagnostic markers in blood spots collected on filter paper on the second day of life

Treatment: Phe-restricted dietPrognosis: excellent with initiation of treatment shortly after birth The Traditional NBS Model (Testing as SIMPLE as Possible)

* Every state in the US has a newborn screening program * No federal guidelines for newborn screening * Newborns in WI are screened for “48” different disorders, including hearing * Screening decreases morbidity and mortality, and increases quality of life for babies with these disorders * Testing and parental notification are required by state law * Requires that parents be informed of testing o “No tests may be performed…unless the parents or legal guardian are fully informed of the purposes of testing…and have been given reasonable opportunity to object…” * Parents may refuse based on religion o “This section shall not apply if the parents… object...on the grounds that the test conflicts with their religious tenets and practices

Why Is Newborn Screening Done? * Early identification and treatment of newborns affected with certain congenital disorders can prevent serious medical complications * Cannot test for every congenital disorder; Criteria for testing must be met

Newborn Screening Criteria * Occurs in at least 1/100,000 births * Detection in the neonatal period leads to a demonstrable reduction in morbidity and mortality * Potential for effective therapy * Reasonable cost * Laboratory feasibility * Because PKU was the first disorder screened for, newborn screening is sometimes mistakenly called the “PKU test”

Results Reporting * Physician is contacted immediately whenever a result is abnormal o Physician contacts the parents and arranges any follow-up testing necessary o Immediate notification important for treatment in some disorders

10 May 2009

* A male infant weighing 3000 g (6 lb 10 oz) is born at 36 weeks' gestation, with normal Apgar scores and an unremarkable initial examination. At 48 hours of age he is noted to have dusky episodes while feeding, and does not feed well. On repeat examination the child is tachypneic, with subcostal retractions. Lung sounds are clear and there is no heart murmur.

* Tachypnea immediately after birth or within two hours, with other predictable signs of respiratory distress. * Symptoms can last few hours to two days. * Chest radiography shows diffuse parenchymal infiltrates, a “ wet silhouette” around heart, or intralobar fluid accumulation

07 May 2009

CHILDHOOD INJURIES LESS COMMON THAN IN ADULTSMORE INJURIES OCCUR IN THE UPPER CERVICAL SPINE IN INFANTS AND YOUNG CHILDREN WHY ?APEX OF THE FLEXION CURVE IN UPPER SPINEDIVIDE PATIENTS BY AGE GROUP PREVERTEBRAL SOFT TISSUES * Buckling and pseudothickening * Full inspiration-extension * Pharyngeal-tracheal stepoff * Don’t spend too much time

OTHER PROBLEMS * Infant and children are hypermobile o Physiologic motion may be pronounced * Immature spine o Synchondroses, etc.

02 May 2009

* Occurs in approximately 1 in 1000 births * 80% have the classic 47,xxy karyotype, with 10 % having 46,XY/47XXY mosaicism and another 10% having multiple x or Y chromosomes * Results from nondisjunction and is often associated with advanced maternal age * Rarely diagnosed before the onset of puberty * Most children with KS present initially with behavior problems , abnormal puberty or infertility issues * Typically taller than average and increased carrying angle and a relatively wide pelvis * 30% will develop gynecomastia during in puberty * 50% of children have speech delays and 25% have motor * All affected males are infertile, although there are rare cases of fertility

Sickle Cell Disease

* Results from a single genetic mutation in which a nucleotide in the coding sequence of a beta-globin gene is mutated from adenosine to thymidine * This mutation occurs in the middle of the triplet that codes for normally glutamic acid as the 6th AA of the beta-chain of hemoglobin. The single base change substitutes Valine for glutamic acid. * The resulting mutated hemoglobin has decreased solubility and abnormal polymerization properties * If only 1 beta-globin gene is mutated= heterozygous state which is referred to as sickle cell trait * If both genes are mutated resulting in homozygous state and called sickle cell anemia or sickle cell disease. * Prenatal testing for sickle cell has improved significantly over the past 2 decades. * The newborn with sickle cell disease is not anemic initially because of the protective affects of elevated fetal hemoglobin. Hemolytic anemia develops over the 1st 2-4mo. * Chorionic villus sampling can be performed as early as 9 wks gestation making it an earlier alternative to amniocentesis.

Teratogens

* Accutane embryopathy is associated with embryonic exposure to isotretinoin beyond the 15th day after conception and through the end of 1st trimester * Isotretinoin is a vitamin A derivative that is administered orally and used for the treatment of cystic acne * It impedes the normal neural crest migration in the developing embryo. * This disruption in the migration of the neural crest cells leads to defects in the central nervous system, severe ear anomalies, conotruncal heart defects and thymic abnormalities * Alcohol can cause all the above mentioned abnormalities with the exception of thymus abnormalities * Warfarin embryopathy is a recognizable pattern of malformation. Warfarin acts as an anticoagulant because it is a vitamin K antagonist. It prevents the carboxylation of gamma-carboxyglutamic acid which is a component of osteocalcin and other vit K dependent bone proteins. * The critical period of exposure is between 6-9 weeks.

Down’s Syndrome

* 95% of all those affected with DS have trisomy of the chromosome 21 * 90-95% of these cases are due to maternal meiotic error with 75% occurring in meiosis I. 3-5% are due to paternal meiotic errors and the remainder are due to mitotic nondisjunction * Recurrence risk estimates are based on empiric data * The overall recurrence risk for having a child with any trisomy is approx 1% added to the mother’s age-related risk. As a woman ages the age related risk exceeds the recurrence risk

Turner Syndrome

* The two most common features in girls with TS is short stature and gonadal dysgenesis. It should be suspected in any girl of short stature with unknown cause. * Estimated that 1 in 2500 girls are affected * Linear growth velocity varies: from birth to 3 yrs it is normal, from 3-12 yrs velocity decreases, and after age 12 it decelerates even further. * Most affected girls have a 45,X karyotype * Diagnosis is based on chromosomal analysis

Neurofibromatosis Type I

* Occurs in 1 in 3000 to 1 in 4000 lives births and is unrelated to gender, ethnicity or geographic location * Autosomal dominant condition * 50% of cases are spontaneous mutations in the gene that codes for neurofibromin on chromosome 17. * Males and females are equally affected * The recurrence risk to offspring of an affected individual is 50% * This gene abnormality shows full penetrance * Café au lait macules (CALMs) are uniformly pigmented flat spots that range in size from a few mm to as much as 30cm in adults. CALMs increase in size in proportion to growth. * One or two CALMs are common more than 6 raises the concern about NF-1 * Of children who present with 6 or more CALMs 89% meet the diagnostic criteria for NF-1 within 3 years.

Angelman Syndrome

* Affected children are normal at birth * They experience global developmental delay, but speech is affected most. Most children will never speak * They laugh frequently and have an ataxic gait and often hold their elbows away from their bodies.

01 May 2009

* Perform physical examination from head to toe on a pediatric patient. * You may need to alter the order of the examination for patient compliance for uncooperative or hyperactive patients. * Do not force a child to do something that may be frightening or uncomfortable to them. * When examining an infant, toddler, or school-aged child it is suggested to have a parent or guardian in the room with you. * Examination of an infant or toddler may be preformed on the lap of the patient. * With an adolescent, it may be more appropriate not to have the parent in the room with you, this may allow the patient to feel that they can be more candid. * To avoid possible legal issues, a male doctor may want a female staff member to be in the examination room. * The doctor should verify confidentiality laws in their particular state.

* Blood pressure must be measured with a cuff wide enough to cover at least 1/2 to 2/3 of the extremity and its bladder should encircle the entire extremity. * A narrow cuff elevates the pressure, while a wide cuff lowers it. * Systolic hypertension is seen with anxiety, renal disease, coarctation of the aorta, essential hypertension, and certain endocrine abnormalities. * Diastolic hypertension occurs with endocrine abnormalities and coarctation of the aorta. * Hypotension occurs in hypovolemia and other forms of shock.Blood Pressure Pulse Heart Rate Respiration Respiratory Rate Temperature Methods of Taking Temperature General Inspection Head Eyes Nose Ears Throat MumpsThrushThrush on the TongueOral ThrushAcute TonsillitisDiphtheria Bull NeckDiphtheria PsudomembraneStomatitisStomatitis of the TongueMastoiditisMumpsKippel FeilCongenital Muscular TorticollisThorax and Heart Pectus ExcavatumPigeon BreastGynecomastiaUpper Extremity

* Examination of the upper extremities should include inspection for normal anatomy and limb position, palpation for structural integrity, and joint range of motion. * The extremities should be examined for clubbing, cyanosis, and edema. * Acrocyanosis is a common finding in neonates, characterized by cyanotic discoloration, coldness, and sweating of the extremities, especially the hands. * Any deformities or extra digits should be noted. * Range of motion, swelling, erythema, and warmth should be noted of any joint. * Check for signs of contusions, abrasions, and edema which are common signs of trauma.

Otitis Media * Otitis Media is the second most common reason after a well baby visit to the pediatrician’s office. * It is estimated that approximately 30 million office visits per year involve evaluation and treatment of Otitis Media and billions of dollars are spent annually for Otitis Media care. * More than a quarter of all prescriptions written each year for oral antibiotics are for the treatment of middle ear infections. * Many surgical procedures such as myringotomy with tympanostomy tube placement or tonsillectomy and adenoidectomy are preformed on children for treatment of recurrent diseases.

Otitis Media Classifications

* OM can be classified into 4 categories: o Acute Otitis Media is the sudden onset of inflammation of the middle ear, which is often accompanied by fever and ear pain. o Persistent Middle Ear Effusion also called subacute OM, is the presence of middle ear fluid after antimicrobial treatment. Resolution of acute inflammatory signs has occurred, with persistence of a more serous, less purulent effusion. o Recurrent Otitis Media is frequent episodes of acute OM with complete clearing between each case. This condition affects approximately 20% of the children who are (Otitis Prone), such children are usually infants who have their 1st. Infection at less than a year of age. o Chronic Otitis Media with effusion, (serous OM, secretory OM,) is a chronic condition characterized by persistence of fluid in the middle ear for 3 months or longer. The TM is retracted or concave with impaired mobility and shows no signs of acute inflammation and affected children may be asymptomatic. These individuals are at greatest risk for developing hearing deficits and speech delay.

Otitis Media Epidemiology

* Peak incidence is 6 to 36 months of age. * OM is relative uncommon in older children and adolescents. * The condition is more common in boys and the prevalence is greater in Alaskan natives, Native Americans, and Caucasians. * Epidemiologic Risk Factors: o Familial predisposition o low socioeconomic status o altered host defences o environmental factors o presence of underlying condition * The highest rate of Otitis Media occurs during the winter months and early spring, coinciding with peaks in the incidence of URI’s. * Breast feeding which provides infants with immunologic protection against URI’s, other viral and bacterial infections and allergies, is thought to have a preventive effect against OM. * I has been hypothesized that facial muscles develop differently in breast-fed infants, thus influencing eustachian tube function and preventing aspiration of fluid into the middle ear.Positioning during breastfeeding also has been hypothesized to have some protective effect.

* The most important factor in the pathogenesis OM is abnormal function of the eustachian tube. * Reflux, aspiration or insufflation of nasopharyngeal bacteria into the middle ear via the dysfunctional eustachian tube may lead to infection. * The causative microorganisms for OM are Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis. * Group A streptoccus, Staphylococcus aureus, and anaerobic bacteria are other less common causes. * Eustachian tube dysfunction occurs primarily for 2 reasons: abnormal patency and obstruction. * Obstruction is either functional or mechanical or both. o Functional, secondary to collapse of the eustachian tube, obstruction or collapse of the eustachian tube occurs commonly in infants and young children because the tube is less cartilaginous and therefore less stiff than in adults. o Intrinsic mechanical obstruction of the eustachian tube occurs as the result of inflammation secondary to a URI or allergy. o Extrinsic causes of mechanical obstruction include masses such as tumors or adrenoidal enlargement. * Differential Diagnosis: o The most common cause of otalgia, or ear pain, is acute OM. o Other causes include mastoiditis, which is almost always accompanied by OM; otitis externa; and referred pain from the oropharynx, teeth, adenoids, or posterior auricular lymph nodes. o A foreign body in the canal can produce similar symptoms.

23 April 2009

Winston S. Price, M.D., FAAP, a practicing pediatrician in Brooklyn, New York, discusses his studies on the uses of technology treating asthma. Dr. Price is currently the President of the National Medical Association. Series: LeNoir - NMA Pediatric Lecture Series

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